Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Maurice Super"'
Autor:
Maurice Super, Martin Schwarz
Publikováno v:
European Journal of Pediatrics. 151:108-111
A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diag
Autor:
D. T. Pilz, Mary D. King, Z. Docherty, Maurice Super, S. McManus, J. L. Huret, S.J. Fennell, E. Boyd, A. J. Barnicoat, E. Shafei-Benaissa, John Tolmie, J. L. Bonneau, E. L. Maltby
Publikováno v:
Clinical genetics. 49(1)
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplicati
Autor:
Nicholas M Sharer, Maurice Super, Neil Shiel, Joan M. Braganza, Gary Hambleton, Mukesh Summan, Martin Jones
Publikováno v:
Biochemical Society transactions. 21(4)
Autor:
Christine Swindlehurst, Maurice Super
Publikováno v:
American journal of medical genetics. 18(3)
The high incidence of carriers of cystic fibrosis in the general population allows application of a less than perfect test to genetic counselling of relatives of children with the disorder and their spouses. In the absence of a definitive carrier det